Hearing loss and fluctuating hearing levels in X-linked hypophosphataemic osteomalacia

Abstract Background and objective: X-linked hypophosphataemic osteomalacia is the most common of the genetically determined forms of osteomalacia. The occurrence of hearing loss in X-linked hypophosphataemic osteomalacia has been known since 1984. However, observations on the progression of such hearing loss, and suggestions regarding possible therapy, have not previously been published. Methods: Case report of a patient with X-linked hypophosphataemic osteomalacia and hearing loss, with three years' audiological follow up, description of empirical therapy and literature review. Results: The patient presented with fluctuating hearing. An audiogram showed mild to severe sensorineural hearing loss mainly in the low and high frequencies. A temporary improvement of 20-40dB after steroid therapy was observed. Four weeks later, hearing had deteriorated again, mainly in the low frequencies. After one year of fluctuating hearing levels, stabilisation occurred. Conclusions: In X-linked hypophosphataemic osteomalacia, hearing loss occurs predominantly in the low and high frequencies. The hearing loss type and progression pattern point to an endolymphatic hydrops as the pathogenetic mechanism. Steroid therapy may be of some benefi

Comb-calibrated solar spectroscopy through a multiplexed single-mode fiber channel

We investigate a new scheme for astronomical spectrograph calibration using the laser frequency comb at the Solar Vacuum Tower Telescope on Tenerife. Our concept is based upon a single-mode fiber channel, that simultaneously feeds the spectrograph with comb light and sunlight. This yields nearly perfect spatial mode matching between the two sources. In combination with the absolute calibration provided by the frequency comb, this method enables extremely robust and accurate spectroscopic measurements. The performance of this scheme is compared to a sequence of alternating comb and sunlight, and to absorption lines from Earth's atmosphere. We also show how the method can be used for radial-velocity detection by measuring the well-explored 5-minute oscillations averaged over the full solar disk. Our method is currently restricted to solar spectroscopy, but with further evolving fiber-injection techniques it could become an option even for faint astronomical targets.Comment: 21 pages, 11 figures. A video abstract for this paper is available on youtube. For watching the video, please follow https://www.youtube.com/watch?v=oshdZgrt89I . The video abstract is also available for streaming and download on the related article website of New Journal of Physic

A Frequency Comb calibrated Solar Atlas

The solar spectrum is a primary reference for the study of physical processes in stars and their variation during activity cycles. In Nov 2010 an experiment with a prototype of a Laser Frequency Comb (LFC) calibration system was performed with the HARPS spectrograph of the 3.6m ESO telescope at La Silla during which high signal-to-noise spectra of the Moon were obtained. We exploit those Echelle spectra to study the optical integrated solar spectrum . The DAOSPEC program is used to measure solar line positions through gaussian fitting in an automatic way. We first apply the LFC solar spectrum to characterize the CCDs of the HARPS spectrograph. The comparison of the LFC and Th-Ar calibrated spectra reveals S-type distortions on each order along the whole spectral range with an amplitude of +/-40 m/s. This confirms the pattern found by Wilken et al. (2010) on a single order and extends the detection of the distortions to the whole analyzed region revealing that the precise shape varies with wavelength. A new data reduction is implemented to deal with CCD pixel inequalities to obtain a wavelength corrected solar spectrum. By using this spectrum we provide a new LFC calibrated solar atlas with 400 line positions in the range of 476-530, and 175 lines in the 534-585 nm range. The new LFC atlas improves the accuracy of individual lines by a significant factor reaching a mean value of about 10 m/s. The LFC--based solar line wavelengths are essentially free of major instrumental effects and provide a reference for absolute solar line positions. We suggest that future LFC observations could be used to trace small radial velocity changes of the whole solar photospheric spectrum in connection with the solar cycle and for direct comparison with the predicted line positions of 3D radiative hydrodynamical models of the solar photosphere.Comment: Accept on the 15th of October 2013. 9 pages, 10 figures. ON-lINE data A&A 201

Burnout in therapy radiographers in the United Kingdom

The 2007 UK National Radiotherapy Advisory Group (NRAG) report indicated the number and type of staff available is one of the ‘rate limiting’ steps in improving productivity in radiotherapy departments. Retaining well trained, satisfied staff, is key to meeting the objectives of the report; burnout is an important factor linked to satisfaction and attrition. Results of a survey measuring burnout in a sample of Radiation Therapists (Therapy Radiographers) are presented and considered against norms for the health sector and burnout in therapists from Canada and the US

Metastable anions of dinitrobenzene: resonances for electron attachment and kinetic energy release

Attachment of free, low-energy electrons to dinitrobenzene (DNB) in the gas phase leads to DNB as well as several fragment anions. DNB, (DNB-H), (DNB-NO), (DNB-2NO), and (DNB-NO(2)) are found to undergo metastable (unimolecular) dissociation. A rich pattern of resonances in the yield of these metastable reactions versus electron energy is observed; some resonances are highly isomer-specific. Most metastable reactions are accompanied by large average kinetic energy releases (KER) that range from 0.5 to 1.32 eV, typical of complex rearrangement reactions, but (1,3-DNB-H)(-) features a resonance with a KER of only 0.06 eV for loss of NO. (1,3-DNB-NO)(-) offers a rare example of a sequential metastable reaction, namely, loss of NO followed by loss of CO to yield C(5)H(4)O(-) with a large KER of 1.32 eV. The G4(MP2) method is applied to compute adiabatic electron affinities and reaction energies for several of the observed metastable channels. (C) 2010 American Institute of Physics. [doi:10.1063/1.3514931

Trans-splenic puncture during percutaneous nephrolithotomy: Outcome spectrum of the same complication

AbstractPercutaneous nephrolithotomy is an endourologic technique commonly used in the management of nephrolithiasis. However, this procedure is not complication-free. Splenic injury is exceptionally rare with a reported rate of 1% from the total case load. We present herein two cases of splenic puncture during percutaneous nephrolithotomy that illustrate two different outcomes. In the first case, the patient remained asymptomatic and was discharged on her third post-operative day after removing the nephrostomy, without any sign of hemodynamic compromise. In the second case, the patient presented with hemodynamic instability and an abdominal computed tomography scan was done that showed free fluid in the peritoneal cavity. Emergency laparotomy was performed and revealed a deep peripheral laceration (20mm×5mm in length) that required splenectomy. After a thorough review of the existing literature, we could find only 11 other instances of injury to the spleen in which treatment outcomes were reported. Patient hemodynamic status was the main factor in deciding on the type of treatment

Pathway deregulation and expression QTLs in response to Actinobacillus pleuropneumoniae infection in swine

Actinobacillus (A.) pleuropneumoniae is among the most important pathogens in pig. The agent causes severe economic losses due to decreased performance, the occurrence of acute or chronic pleuropneumonia, and an increase in death incidence. Since therapeutics cannot be used in a sustainable manner, and vaccination is not always available, new prophylactic measures are urgently needed. Recent research has provided evidence for a genetic predisposition in susceptibility to A. pleuropneumoniae in a Hampshire × German Landrace F2 family with 170 animals. The aim of the present study is to characterize the expression response in this family in order to unravel resistance and susceptibility mechanisms and to prioritize candidate genes for future fine mapping approaches. F2 pigs differed distinctly in clinical, pathological, and microbiological parameters after challenge with A. pleuropneumoniae. We monitored genome-wide gene expression from the 50 most and 50 least susceptible F2 pigs and identified 171 genes differentially expressed between these extreme phenotypes. We combined expression QTL analyses with network analyses and functional characterization using gene set enrichment analysis and identified a functional hotspot on SSC13, including 55 eQTL. The integration of the different results provides a resource for candidate prioritization for fine mapping strategies, such as TF, TFRC, RUNX1, TCN1, HP, CD14, among others