10,223 research outputs found
Andersen-Tawil Syndrome
Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients with ATS. To date, KCNJ2 is the only gene implicated in ATS, accounting for approximately 60% of cases. ATS is a unique channelopathy, and represents the first link between cardiac and skeletal muscle excitability. The arrhythmias observed in ATS are distinctive; patients may be asymptomatic, or minimally symptomatic despite a high arrhythmia burden with frequent ventricular ectopy and bidirectional ventricular tachycardia. However, patients remain at risk for life-threatening arrhythmias, including torsades de pointes and ventricular fibrillation, albeit less commonly than observed in other genetic arrhythmia syndromes. The characteristic heterogeneity at both the genotypic and phenotypic levels contribute to the continued difficulties with appropriate diagnosis, risk stratification, and effective therapy. The initial recognition of a syndromic association of clinically diverse symptoms, and the subsequent identification of the underlying molecular genetic basis of ATS has enhanced both clinical care, and our understanding of the critical function of Kir2.1 on skeletal muscle excitability and cardiac action potentia
The National Virtual Observatory
As a scientific discipline, Astronomy is rather unique. We only have one
laboratory, the Universe, and we cannot, of course, change the initial
conditions and study the resulting effects. On top of this, acquiring
Astronomical data has historically been a very labor-intensive effort. As a
result, data has traditionally been preserved for posterity. With recent
technological advances, however, the rate at which we acquire new data has
grown exponentially, which has generated a Data Tsunami, whose wave train
threatens to overwhelm the field. In this conference proceedings, we present
and define the concept of virtual observatories, which we feel is the only
logical answer to this dilemma.Comment: 5 pages, uses newpasp.sty (included), to appear in "Extragalactic Gas
at Low Redshfit", ASP Conf. Series, J. S. Mulchaey and J. T. Stocke (eds.
Discovery of Pulsed X-ray Emission from the SMC Transient RX J0117.6-7330
We report on the detection of pulsed, broad-band, X-ray emission from the
transient source RX J0117.6-7330. The pulse period of 22 seconds is detected by
the ROSAT/PSPC instrument in a 1992 Sep 30 - Oct 2 observation and by the
CGRO/BATSE instrument during the same epoch. Hard X-ray pulsations are
detectable by BATSE for approximately 100 days surrounding the ROSAT
observation (1992 Aug 28 - Dec 8). The total directly measured X-ray luminosity
during the ROSAT observation is 1.0E38 (d/60 kpc)^2 ergs s-1. The pulse
frequency increases rapidly during the outburst, with a peak spin-up rate of
1.2E-10 Hz s-1 and a total frequency change 1.8%. The pulsed percentage is
11.3% from 0.1-2.5 keV, increasing to at least 78% in the 20-70 keV band. These
results establish RX J0117.6-7330 as a transient Be binary system.Comment: 17 pages, Latex, aasms, accepted for publication in ApJ Letter
Challenges in the development of the orbiter atmosphere revitalization subsystem
The space shuttle orbiter atmospheric revitalization subsystem provides thermal and contaminant control as well as total- and oxygen partial-pressure control of the environment within the orbiter crew cabin. Challenges that occurred during the development of this subsystem for the space shuttle orbiter are described. The design of the rotating hardware elements of the system (pumps, fans, etc.) required significant development to meet the requirements of long service life, maintainability, and high cycle-fatigue life. As a result, a stringent development program, particularly in the areas of bearing life and heat dissipation, was required. Another area requiring significant development was cabin humidity control and condensate collection
Optimality Theory as a Framework for Lexical Acquisition
This paper re-investigates a lexical acquisition system initially developed
for French.We show that, interestingly, the architecture of the system
reproduces and implements the main components of Optimality Theory. However, we
formulate the hypothesis that some of its limitations are mainly due to a poor
representation of the constraints used. Finally, we show how a better
representation of the constraints used would yield better results
Taking Synchrony Seriously: A Perceptual-Level Model of Infant Synchrony Detection
Synchrony detection between different sensory and/or motor channels appears critically important for young infant learning and cognitive development. For example, empirical studies demonstrate that audio-visual synchrony aids in language acquisition. In this paper we compare these infant studies with a model of synchrony detection based on the Hershey and Movellan (2000) algorithm augmented with methods for quantitative synchrony estimation. Four infant-model comparisons are presented, using audio-visual stimuli of increasing complexity. While infants and the model showed learning or discrimination with each type of stimuli used, the model was most successful with stimuli comprised of one audio and one visual source, and also with two audio sources and a dynamic-face visual motion source. More difficult for the model were stimuli conditions with two motion sources, and more abstract visual dynamics—an oscilloscope instead of a face. Future research should model the developmental pathway of synchrony detection. Normal audio-visual synchrony detection in infants may be experience-dependent (e.g., Bergeson, et al., 2004)
Expected characteristics of the subclass of Supernova Gamma-ray Bursts (S-GRBs)
The spatial and temporal coincidence between the gamma-ray burst (GRB) 980425
and supernova (SN) 1998bw has prompted speculation that there exists a class of
GRBs produced by SNe (``S-GRBs''). Robust arguments for the existence of a
relativistic shock have been presented on the basis of radio observations. A
physical model based on the radio observations lead us to propose the following
characteristics of supernovae GRBs (S-GRBs): 1) prompt radio emission and
implied brightness temperature near or below the inverse Compton limit, 2) high
expansion velocity of the optical photosphere as derived from lines widths and
energy release larger than usual, 3) no long-lived X-ray afterglow, and 4) a
single pulse (SP) GRB profile. Radio studies of previous SNe show that only
type Ib and Ic potentially satisfy the first condition. Accordingly we have
investigated proposed associations of GRBs and SNe finding no convincing
evidence (mainly to paucity of data) to confirm any single connection of a SN
with a GRB. If there is a more constraining physical basis for the burst
time-history of S-GRBs beyond that of the SP requirement, we suggest the 1% of
light curves in the BATSE catalogue similar to that of GRB 980425 may
constitute the subclass. Future optical follow-up of bursts with similar
profiles should confirm if such GRBs originate from some fraction of SN type
Ib/Ic.Comment: 11 pages of LaTeX with 1 figure. Submitted to the Astrophysical
Journal Letter
Discovery of 16.6 and 25.5 s Pulsations from the Small Magellanic Cloud
We report the serendipitous detection of two previously unreported pulsars
from the direction of the Small Magellanic Cloud, with periods of 16.6 and 25.5
seconds. The detections are based on archival PCA data from the Rossi X-ray
Timing Explorer (RXTE). The observation leading to these detections occurred in
September 2000 extending over 2.1 days with an exposure of 121 ks. A possible
identification of the 16.6 s pulsar with an X-ray source RX J0051.8-7310 seen
by both ROSAT and ASCA imaging X-ray satellites is presented.Comment: 9 pages with 3 figures. Submitted to ApJ Letter
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