Progression of myopathology in Kearns-Sayre syndrome

We report on the progression of myopathology by comparing two biopsies from a patient with a Kearns-Sayre-Syndrome. The first biopsy was taken in 1979 and showed 10% ragged-red fibers. Myopathic changes were slight including internal nuclei and fiber splitting in 10% of the fibers. Electron microscopy revealed typical mitochondrial abnormalities with regard to number and shape. In 1989 a second biopsy was performed for an extended analysis of mitochondrial DNA. This time less than 5% of all fibers were ragged-red. Severe myopathic changes could be detected which so far has rarely been reported in mitochondrial cytopathy

An Odorant Receptor from the Southern House Mosquito Culex pipiens quinquefasciatus Sensitive to Oviposition Attractants

Insect odorant receptors (ORs) are heteromers comprised of highly variable odorant-binding subunits associated with one conserved co-receptor. They are potential molecular targets for the development of novel mosquito attractants and repellents. ORs have been identified in the malaria mosquito, Anopheles gambiae, and in the yellow fever mosquito, Aedes aegypti. However, they are still unknown in the Southern house mosquito, Culex quinquefasciatus, which transmits pathogens that cause human diseases throughout the world, including West Nile Virus in the United States.We have employed a combination of bioinformatics, molecular cloning and electrophysiology approaches to identify and characterize the response profile of an OR in Cx. quinquefasciatus. First, we have unveiled a large multigenic family of one-hundred-fifty-eight putative ORs in this species, including a subgroup of conserved ORs in three mosquito species. Using the Xenopus oocytes expression system, we have determined the response profile of CquiOR2, an antennae-specific OR, which shares high identity with putative orthologs in Anopheles gambiae (AgamOR2) and Aedes aegypti (AaegOR2).We show that CquiOR2 is highly sensitive to indole, an oviposition attractant for Cx. quinquefasciatus. The response profile of CquiOR2 expressed in Xenopus oocytes resembles that of an olfactory receptor neuron housed in the antennal short blunt-tipped sensilla (A2) of Cx. quinquefasciatus, which are natural detectors for oviposition attractants. This first Culex OR de-orphanized is, therefore, a potential molecular target for screening oviposition attractants

Shallow stratigraphic control on pockmark distribution in north temperate estuaries

This paper is not subject to U.S. copyright. The definitive version was published in Marine Geology 329-331 (2012): 34-45, doi:10.1016/j.margeo.2012.09.006.Pockmark fields occur throughout northern North American temperate estuaries despite the absence of extensive thermogenic hydrocarbon deposits typically associated with pockmarks. In such settings, the origins of the gas and triggering mechanism(s) responsible for pockmark formation are not obvious. Nor is it known why pockmarks proliferate in this region but do not occur south of the glacial terminus in eastern North America. This paper tests two hypotheses addressing these knowledge gaps: 1) the region's unique sea-level history provided a terrestrial deposit that sourced the gas responsible for pockmark formation; and 2) the region's physiography controls pockmarks distribution. This study integrates over 2500 km of high-resolution swath bathymetry, Chirp seismic reflection profiles and vibracore data acquired in three estuarine pockmark fields in the Gulf of Maine and Bay of Fundy. Vibracores sampled a hydric paleosol lacking the organic-rich upper horizons, indicating that an organic-rich terrestrial deposit was eroded prior to pockmark formation. This observation suggests that the gas, which is presumably responsible for the formation of the pockmarks, originated in Holocene estuarine sediments (loss on ignition 3.5–10%), not terrestrial deposits that were subsequently drowned and buried by mud. The 7470 pockmarks identified in this study are non-randomly clustered. Pockmark size and distribution relate to Holocene sediment thickness (r2 = 0.60), basin morphology and glacial deposits. The irregular underlying topography that dictates Holocene sediment thickness may ultimately play a more important role in temperate estuarine pockmark distribution than drowned terrestrial deposits. These results give insight into the conditions necessary for pockmark formation in nearshore coastal environments.Graduate support for Brothers came from a Maine Economic Improvement Fund Dissertation Fellowship

The Atacama Cosmology Telescope: CO(J = 3 - 2) mapping and lens modeling of an ACT-selected dusty star-forming galaxy

We report Northern Extended Millimeter Array (NOEMA) CO($J = 3 - 2$) observations of the dusty star-forming galaxy ACT-S\,J020941+001557 at $z = 2.5528$, which was detected as an unresolved source in the Atacama Cosmology Telescope (ACT) equatorial survey. Our spatially resolved spectral line data support the derivation of a gravitational lens model from 37 independent velocity channel maps using a pixel-based algorithm, from which we infer a velocity-dependent magnification factor $\mu \approx 7-22$ with a luminosity-weighted mean \left\approx 13. The resulting source-plane reconstruction is consistent with a rotating disk, although other scenarios cannot be ruled out by our data. After correction for lensing, we derive a line luminosity $L^{\prime}_{\rm CO(3-2)}= (5.53\pm 0.69) \times 10^{10}\,{\rm \,K\,km\,s^{-1}\,pc^{2}}$, a cold gas mass $M_{{\rm gas}}= (3.86 \pm 0.33) \times 10^{10}\,M_{\odot}$, a dynamical mass $M_{\rm dyn}\,{\rm sin}^2\,i = 3.9^{+1.8}_{-1.5} \times 10^{10}\,M_{\odot}$, and a gas mass fraction $f_{\rm gas}\,{\rm csc}^2\,i = 1.0^{+0.8}_{-0.4}$. The line brightness temperature ratio of $r_{3,1}\approx 1.6$ relative to a Green Bank Telescope CO($J=1-0$) detection may be elevated by a combination of external heating of molecular clouds, differential lensing, and/or pointing errors.Comment: 8 pages, 5 figures, accepted to Ap

Data compression for the First G-APD Cherenkov Telescope

The First Geiger-mode Avalanche photodiode (G-APD) Cherenkov Telescope (FACT) has been operating on the Canary island of La Palma since October 2011. Operations were automated so that the system can be operated remotely. Manual interaction is required only when the observation schedule is modified due to weather conditions or in case of unexpected events such as a mechanical failure. Automatic operations enabled high data taking efficiency, which resulted in up to two terabytes of FITS files being recorded nightly and transferred from La Palma to the FACT archive at ISDC in Switzerland. Since long term storage of hundreds of terabytes of observations data is costly, data compression is mandatory. This paper discusses the design choices that were made to increase the compression ratio and speed of writing of the data with respect to existing compression algorithms. Following a more detailed motivation, the FACT compression algorithm along with the associated I/O layer is discussed. Eventually, the performances of the algorithm is compared to other approaches.Comment: 17 pages, accepted to Astronomy and Computing special issue on astronomical file format

FACT - Monitoring Blazars at Very High Energies

The First G-APD Cherenkov Telescope (FACT) was built on the Canary Island of La Palma in October 2011 as a proof of principle for silicon based photosensors in Cherenkov Astronomy. The scientific goal of the project is to study the variability of active galatic nuclei (AGN) at TeV energies. Observing a small sample of TeV blazars whenever possible, an unbiased data sample is collected. This allows to study the variability of the selected objects on timescales from hours to years. Results from the first three years of monitoring will be presented. To provide quick flare alerts to the community and trigger multi-wavelength observations, a quick look analysis has been installed on-site providing results publicly online within the same night. In summer 2014, several flare alerts were issued. Results of the quick look analysis are summarized.Comment: 2014 Fermi Symposium proceedings - eConf C14102.

Calibration and performance of the photon sensor response of FACT -- The First G-APD Cherenkov telescope

The First G-APD Cherenkov Telescope (FACT) is the first in-operation test of the performance of silicon photo detectors in Cherenkov Astronomy. For more than two years it is operated on La Palma, Canary Islands (Spain), for the purpose of long-term monitoring of astrophysical sources. For this, the performance of the photo detectors is crucial and therefore has been studied in great detail. Special care has been taken for their temperature and voltage dependence implementing a correction method to keep their properties stable. Several measurements have been carried out to monitor the performance. The measurements and their results are shown, demonstrating the stability of the gain below the percent level. The resulting stability of the whole system is discussed, nicely demonstrating that silicon photo detectors are perfectly suited for the usage in Cherenkov telescopes, especially for long-term monitoring purpose