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Lack of Correlation Between Pulmonary Disease and Cystic Fibrosis Transmembrane Conductance Regulator Dysfunction in Cystic Fibrosis: A Case Report
Introduction: Mutations in both alleles of the cystic fibrosis transmembrane conductance regulator gene result in the disease cystic fibrosis, which usually manifests as chronic sinopulmonary disease, pancreatic insufficiency, elevated sodium chloride loss in sweat, infertility among men due to agenesis of the vas deferens and other symptoms including liver disease. Case presentation: We describe a pair of African-American brothers, aged 21 and 27, with cystic fibrosis. They were homozygous for a rare frameshift mutation in the cystic fibrosis transmembrane conductance regulator 3791delC, which would be expected to cause significant morbidity. Although 80% of cystic fibrosis patients are colonized with Pseudomonas aeruginosa by eight years of age, the older brother had no serum opsonic antibody titer to P. aeruginosa by age 13 and therefore would have failed to mount an effective antibody response to the alginate (mucoid polysaccharide) capsule of P. aeruginosa. He was not colonized with P. aeruginosa until 24 years of age. Similarly, the younger brother was not colonized with P. aeruginosa until age 20 and had no significant lung disease. Conclusion: Despite a prevailing idea in cystic fibrosis research that the amount of functional cystic fibrosis transmembrane conductance regulator predicts clinical status, our results indicated that respiratory disease severity in cystic fibrosis exhibits phenotypic heterogeneity. If this heterogeneity is, in part, genetic, it is most likely derived from genes outside the cystic fibrosis transmembrane conductance regulator locus
Some thoughts about nonequilibrium temperature
The main objective of this paper is to show that, within the present
framework of the kinetic theoretical approach to irreversible thermodynamics,
there is no evidence that provides a basis to modify the ordinary Fourier
equation relating the heat flux in a non-equilibrium steady state to the
gradient of the local equilibrium temperature. This fact is supported, among
other arguments, through the kinetic foundations of generalized hydrodynamics.
Some attempts have been recently proposed asserting that, in the presence of
non-linearities of the state variables, such a temperature should be replaced
by the non-equilibrium temperature as defined in Extended Irreversible
Thermodynamics. In the approximations used for such a temperature there is so
far no evidence that sustains this proposal.Comment: 13 pages, TeX, no figures, to appear in Mol. Phy
Scarring Effects on Tunneling in Chaotic Double-Well Potentials
The connection between scarring and tunneling in chaotic double-well
potentials is studied in detail through the distribution of level splittings.
The mean level splitting is found to have oscillations as a function of energy,
as expected if scarring plays a role in determining the size of the splittings,
and the spacing between peaks is observed to be periodic of period
{} in action. Moreover, the size of the oscillations is directly
correlated with the strength of scarring. These results are interpreted within
the theoretical framework of Creagh and Whelan. The semiclassical limit and
finite-{} effects are discussed, and connections are made with reaction
rates and resonance widths in metastable wells.Comment: 22 pages, including 11 figure
Gas morphology and energetics at the surface of PDRs: new insights with Herschel observations of NGC 7023
We investigate the physics and chemistry of the gas and dust in dense
photon-dominated regions (PDRs), along with their dependence on the
illuminating UV field. Using Herschel-HIFI observations, we study the gas
energetics in NGC 7023 in relation to the morphology of this nebula. NGC 7023
is the prototype of a PDR illuminated by a B2V star and is one of the key
targets of Herschel. Our approach consists in determining the energetics of the
region by combining the information carried by the mid-IR spectrum (extinction
by classical grains, emission from very small dust particles) with that of the
main gas coolant lines. In this letter, we discuss more specifically the
intensity and line profile of the 158 micron (1901 GHz) [CII] line measured by
HIFI and provide information on the emitting gas. We show that both the [CII]
emission and the mid-IR emission from polycyclic aromatic hydrocarbons (PAHs)
arise from the regions located in the transition zone between atomic and
molecular gas. Using the Meudon PDR code and a simple transfer model, we find
good agreement between the calculated and observed [CII] intensities. HIFI
observations of NGC 7023 provide the opportunity to constrain the energetics at
the surface of PDRs. Future work will include analysis of the main coolant line
[OI] and use of a new PDR model that includes PAH-related species.Comment: Accepted for publication in Astronomy and Astrophysics Letters
(Herschel HIFI special issue), 5 pages, 5 figure
Epidemiology of Subpatent Plasmodium Falciparum Infection: Implications for Detection of Hotspots with Imperfect Diagnostics.
At the local level, malaria transmission clusters in hotspots, which may be a group of households that experience higher than average exposure to infectious mosquitoes. Active case detection often relying on rapid diagnostic tests for mass screen and treat campaigns has been proposed as a method to detect and treat individuals in hotspots. Data from a cross-sectional survey conducted in north-western Tanzania were used to examine the spatial distribution of Plasmodium falciparum and the relationship between household exposure and parasite density. Dried blood spots were collected from consenting individuals from four villages during a survey conducted in 2010. These were analysed by PCR for the presence of P. falciparum, with the parasite density of positive samples being estimated by quantitative PCR. Household exposure was estimated using the distance-weighted PCR prevalence of infection. Parasite density simulations were used to estimate the proportion of infections that would be treated using a screen and treat approach with rapid diagnostic tests (RDT) compared to targeted mass drug administration (tMDA) and Mass Drug Administration (MDA). Polymerase chain reaction PCR analysis revealed that of the 3,057 blood samples analysed, 1,078 were positive. Mean distance-weighted PCR prevalence per household was 34.5%. Parasite density was negatively associated with transmission intensity with the odds of an infection being subpatent increasing with household exposure (OR 1.09 per 1% increase in exposure). Parasite density was also related to age, being highest in children five to ten years old and lowest in those >â40 years. Simulations of different tMDA strategies showed that treating all individuals in households where RDT prevalence was above 20% increased the number of infections that would have been treated from 43 to 55%. However, even with this strategy, 45% of infections remained untreated. The negative relationship between household exposure and parasite density suggests that DNA-based detection of parasites is needed to provide adequate sensitivity in hotspots. Targeting MDA only to households with RDT-positive individuals may allow a larger fraction of infections to be treated. These results suggest that community-wide MDA, instead of screen and treat strategies, may be needed to successfully treat the asymptomatic, subpatent parasite reservoir and reduce transmission in similar settings
Status of Muon Collider Research and Development and Future Plans
The status of the research on muon colliders is discussed and plans are
outlined for future theoretical and experimental studies. Besides continued
work on the parameters of a 3-4 and 0.5 TeV center-of-mass (CoM) energy
collider, many studies are now concentrating on a machine near 0.1 TeV (CoM)
that could be a factory for the s-channel production of Higgs particles. We
discuss the research on the various components in such muon colliders, starting
from the proton accelerator needed to generate pions from a heavy-Z target and
proceeding through the phase rotation and decay ()
channel, muon cooling, acceleration, storage in a collider ring and the
collider detector. We also present theoretical and experimental R & D plans for
the next several years that should lead to a better understanding of the design
and feasibility issues for all of the components. This report is an update of
the progress on the R & D since the Feasibility Study of Muon Colliders
presented at the Snowmass'96 Workshop [R. B. Palmer, A. Sessler and A.
Tollestrup, Proceedings of the 1996 DPF/DPB Summer Study on High-Energy Physics
(Stanford Linear Accelerator Center, Menlo Park, CA, 1997)].Comment: 95 pages, 75 figures. Submitted to Physical Review Special Topics,
Accelerators and Beam
Return of the King: time-series photometry of FO Aquariiâs initial recovery from its unprecedented 2016 low state
In 2016 May, the intermediate polar FO Aqr was detected in a low state for the first time in its observational history. We report time-resolved photometry of the system during its initial recovery from this faint state. Our data, which includes high-speed photometry with cadences of just 2 s, show the existence of very strong periodicities at 22.5 and 11.26 minutes, equivalent to the spinâorbit beat frequency and twice its value, respectively. A pulse at the spin frequency is also present but at a much lower amplitude than is normally observed in the bright state. By comparing our power spectra with theoretical models, we infer that a substantial amount of accretion was stream-fed during our observations, in contrast to the disk-fed accretion that dominates the bright state. In addition, we find that FO Aqr's rate of recovery has been unusually slow in comparison to rates of recovery seen in other magnetic cataclysmic variables, with an e-folding time of 115 Âą 7 days. The recovery also shows irregular variations in the median brightness of as much as 0.2 mag over a 10-day span. Finally, we show that the arrival times of the spin pulses are dependent upon the system's overall brightness
A Regional Initiative to Reduce Skin Infections amongst Aboriginal Children Living in Remote Communities of the Northern Territory, Australia
Skin infections are endemic in many in remote Australian Aboriginal communities and have been linked to very high rates of chronic heart and kidney disease in this population. We report the results of a regional collaboration that aimed to reduce skin infections amongst children aged less than 15 years in five remote communities. The program included annual mass scabies treatment days offered to all residents and routine screening/follow-up of children. Trained community workers helped conduct over 6000 skin assessments on 2329 children over a three year period. Of every 100 children seen at the commencement of the study, 47 were found to have skin sores and many had multiple sores. We demonstrate a reduction both in the number of children with skin sores and in the severity of those sores. On average, of every 100 children seen per month, there were 14 fewer children with skin sores and seven fewer children with multiple sores. Overall improvement in treatment uptake was a critical factor. We found no discernible impact against scabies. While the burden of skin infections remains unacceptably high, we believe the results presented here are a good news story for local action to address a serious public health problem
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