130 research outputs found
Demographic Data of Patients seen in a Medical Genetics Clinic for Autism Spectrum Disorders (ASD) as part of an ongoing study on “Genetic Variations in ASD”.
Background: Autism spectrum disorder (ASD) is a lifelong developmental disability defined by deficits in social communication and social interaction and restricted, repetitive patterns of behavior, interests, or activities. Over the last few decades, the global prevalence of autism has increased by twentyfold to thirtyfold. In the United States, the prevalence of ASD has increased rapidly with one out of every fifty-nine children (1.7%) diagnosed with the condition. With the increasing prevalence of ASD, the financial cost has been estimated to exceed those of Diabetes and Attention Deficit Hyperactivity Disorder (ADHD) by 2025. Furthermore, ASD has been found to be about 4-5 times more prevalent in males, compared to females, and there has been a noted increase in the prevalence of congenital abnormalities in patients with ASD.
Objective: As part of an ongoing multi-year retrospective chart review of the patients seen at the Genetics Clinic for suspected or confirmed cases of ASD, we sought to identify the demographic characteristics of these patients and to see how they compare with documented studies.
Methods: The overall study is an ongoing multi-year, retrospective chart review of patients seen at the ETSU Medical Genetics Clinic, with features suggestive of ASD. For this preliminary study, we extracted data from the Electronic health record (Allscripts) for 80 patients (n=80), on the gender, term status at birth (term defined as gestational age at delivery of 37 weeks or more, preterm defined as those delivered at less than 37 weeks), twin status, presence of congenital abnormalities, and the state of residence. We entered all the extracted data into REDCap and carried out a descriptive analysis of the data using the Statistical Package for Social Sciences (SPSS).
Results: It was found that of the eighty patients, eighteen (22.5%) were females while sixty-two (77.5%) were males, (male to female ratio of 3.4 to 1). Fifty-nine patients (73.8%) were born at term, eighteen (22.5%) born preterm and three (3.8%) with unknown term status. Seventy-seven patients (96.3%) were twins and three (3.8%) were not. Thirty patients (37.5%) had no congenital abnormalities at birth while fifty patients (62.5%) had at least one congenital abnormality at birth. Sixty-one patients (76.3%) were from Tennessee while nineteen (23.8%) were from Virginia.
Conclusions: This preliminary finding revealed an increased proportion of males compared to females, as well as an increased proportion of the population with congenital abnormalities compared to those without such abnormality. These findings agree with documented data from previous studies on ASD. In our future analysis, we would examine the rate of diagnosis of ASD in the clinic, the type of mutation and the genes involved and identify any trend for specific genes, and/or specific mutation
Time-distance analysis of the emerging active region NOAA 10790
We investigate the emergence of Active Region NOAA 10790 by means of time – distance helioseismology. Shallow regions of increased sound speed at the location of increased magnetic activity are observed, with regions becoming deeper at the locations of sunspot pores. We also see a long-lasting region of decreased sound speed located underneath the region of the flux emergence, possibly relating to a temperature perturbation due to magnetic quenching of eddy diffusivity, or to a dense flux tube. We detect and track an object in the subsurface layers of the Sun characterised by increased sound speed which could be related to emerging magnetic-flux and thus obtain a provisional estimate of the speed of emergence of around 1 km s−1
Formation of Two-Way Shape Memory Effect in NiTi Alloy Using Pulsed Laser Irradiation
Shape memory alloys (SMAs) are a unique class of smart materials and they were employed in various applications in engineering, biomedical, and aerospace technologies. Here, we report an advanced, efficient, and low-cost direct imprinting method with low environmental impact to create thermally controllable surface patterns. Patterned microindents were generated on Ni50Ti50 (at. %) SMAs using an Nd:YAG laser with 1064 nm wavelength at 10 Hz. Laser pulses at selected fluences were focused on the NiTi surface and generated pressure pulses of up to a few GPa. Optical microscope images showed that surface patterns with tailorable sizes can be obtained. The depth of the patterns increases with laser power and irradiation time. Upon heating, the depth profile of SMA surfaces changed where the maximum depth recovery ratio of 30 % was observed. Recovery ratio decreased and saturated at about 15 % when the amount of time and thus the indent depth was increased. Laser-induced shock wave propagation inside the material was simulated and showed a good agreement with the experimental results. The stress wave closely followed the rise time of the laser pulse to its peak value and initial decay. Rapid attenuation and dispersion of the stress wave were observed
Bayesian peak-bagging of solar-like oscillators using MCMC: A comprehensive guide
Context: Asteroseismology has entered a new era with the advent of the NASA
Kepler mission. Long and continuous photometric observations of unprecedented
quality are now available which have stimulated the development of a number of
suites of innovative analysis tools.
Aims: The power spectra of solar-like oscillations are an inexhaustible
source of information on stellar structure and evolution. Robust methods are
hence needed in order to infer both individual oscillation mode parameters and
parameters describing non-resonant features, thus making a seismic
interpretation possible.
Methods: We present a comprehensive guide to the implementation of a Bayesian
peak-bagging tool that employs a Markov chain Monte Carlo (MCMC). Besides
making it possible to incorporate relevant prior information through Bayes'
theorem, this tool also allows one to obtain the marginal probability density
function for each of the fitted parameters. We apply this tool to a couple of
recent asteroseismic data sets, namely, to CoRoT observations of HD 49933 and
to ground-based observations made during a campaign devoted to Procyon.
Results: The developed method performs remarkably well at constraining not
only in the traditional case of extracting oscillation frequencies, but also
when pushing the limit where traditional methods have difficulties. Moreover it
provides an rigorous way of comparing competing models, such as the ridge
identifications, against the asteroseismic data.Comment: Accepted for publication in A&
Meridional Circulation and Global Solar Oscillations
We investigate the influence of large-scale meridional circulation on solar
p-modes by quasi-degenerate perturbation theory, as proposed by
\cite{lavely92}. As an input flow we use various models of stationary
meridional circulation obeying the continuity equation. This flow perturbs the
eigenmodes of an equilibrium model of the Sun. We derive the signatures of the
meridional circulation in the frequency multiplets of solar p-modes. In most
cases the meridional circulation leads to negative average frequency shifts of
the multiplets. Further possible observable effects are briefly discussed.Comment: 14 pages, 5 figures, submittted to Solar Physics Topical Issue
"HELAS
Full--Sphere Simulations of a Circulation--Dominated Solar Dynamo: Exploring the Parity Issue
We explore a two-dimensional kinematic solar dynamo model in a full sphere,
based on the helioseismically determined solar rotation profile and with an
effect concentrated near the solar surface, which captures the
Babcock--Leighton idea that the poloidal field is created from the decay of
tilted bipolar active regions. The meridional circulation, assumed to penetrate
slightly below the tachocline, plays an important role. Some doubts have
recently been raised regarding the ability of such a model to reproduce
solar-like dipolar parity. We specifically address the parity issue and show
that the dipolar mode is preferred when certain reasonable conditions are
satisfied, the most important condition being the requirement that the poloidal
field should diffuse efficiently to get coupled across the equator. Our model
is shown to reproduce various aspects of observational data, including the
phase relation between sunspots and the weak, diffuse field.Comment: 27 pages, 15 figure
A novel approach to identify resonant MHD wave modes in solar pores and sunspot umbrae : B − ω analysis
The umbral regions of sunspots and pores in the solar photosphere are generally dominated by 3 mHz oscillations, which are due to p-modes penetrating the magnetic region. In these locations, wave power is also significantly reduced with respect to the quiet Sun. However, here we study a pore where the power of the oscillations in the umbra is not only comparable, or even larger than that of
the quiet Sun, but the main dominant frequency is not 3 mHz as expected, but instead 5 mHz. By combining Doppler velocities and spectropolarimetry and analysing the relationship between magnetic field strength and frequency, the resultant B − ω diagram reveals distinct ridges which are remarkably clear signatures of resonant MHD oscillations confined within the pore umbra. In addition to velocity oscillations, we demonstrate that these modes are also accompanied by magnetic oscillations, as predicted from MHD theory.
The novel technique of B−ω analysis, proposed in this Letter, opens an exciting new avenue for identifying MHD wave modes in the umbral regions of both pores and sunspots
Quantifying the competing influences of lithology and throw rate on bedrock river incision.
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